Evidence map›Paper›PMID 40713518›Full record

SynthesisBMC immunology2025

Complete Complement Factor I (CFI) deficiency: a systematic review of forty-nine patients including three novel cases.

Erta Rajabi, Mahsa Choroom Kheirabadi, Nasrin Alipour Olyaei, Anne Molitor, Mohadese Sadat Mousavi Khorshidi, Morteza Heidari, Arash Abbasi, Parastoo Rostami, Mohadese Mahdavi, Raphael Carapito and 3 more

Abstract readSystematic ReviewCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in BMC immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Erta RajabiDepartment of Pediatrics, Children's Medical Center, Division of Allergy and Clinical Immunology, Tehran University of Medical Sciences, Tehran, Iran.
Mahsa Choroom KheirabadiDepartment of Pediatrics, Children's Medical Center, Division of Allergy and Clinical Immunology, Tehran University of Medical Sciences, Tehran, Iran.
Nasrin Alipour OlyaeiMolecular Immuno-Rheumatology Laboratory, INSERM UMR_S1109, GENOMAX Platform, Faculty of Medicine, OMICARE University Hospital Federation, Immunology and Hematology Research Center, Research Center in Biomedicine of Strasbourg (CRBS), Federation of Translational Medicine of Strasbourg (FMTS), University of Strasbourg, Strasbourg, 67081, France.
Anne MolitorMolecular Immuno-Rheumatology Laboratory, INSERM UMR_S1109, GENOMAX Platform, Faculty of Medicine, OMICARE University Hospital Federation, Immunology and Hematology Research Center, Research Center in Biomedicine of Strasbourg (CRBS), Federation of Translational Medicine of Strasbourg (FMTS), University of Strasbourg, Strasbourg, 67081, France.
Mohadese Sadat Mousavi KhorshidiDepartment of Pediatrics, Children's Medical Center, Division of Allergy and Clinical Immunology, Tehran University of Medical Sciences, Tehran, Iran.
Morteza HeidariMyelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Arash AbbasiPediatric Chronic Kidney Disease Research Center, Gen, Cell & Tissue Research Institute, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Parastoo RostamiDepartment of Pediatrics, Children's Medical Center, Division of Endocrinology and Metabolism, Tehran University of Medical Sciences, Tehran, Iran.
Mohadese MahdaviDepartment of Pediatrics, Division of Allergy and Clinical Immunology, Mazandaran University of Medical Sciences, Sari, Iran.
Raphael CarapitoMolecular Immuno-Rheumatology Laboratory, INSERM UMR_S1109, GENOMAX Platform, Faculty of Medicine, OMICARE University Hospital Federation, Immunology and Hematology Research Center, Research Center in Biomedicine of Strasbourg (CRBS), Federation of Translational Medicine of Strasbourg (FMTS), University of Strasbourg, Strasbourg, 67081, France.
Mohammad ShahrooeiDr. Shahrooei Lab, Mokhberi St. 10, Ashrafi Esfahani Blvd, Tehran, Iran.
Seiamak BahramMolecular Immuno-Rheumatology Laboratory, INSERM UMR_S1109, GENOMAX Platform, Faculty of Medicine, OMICARE University Hospital Federation, Immunology and Hematology Research Center, Research Center in Biomedicine of Strasbourg (CRBS), Federation of Translational Medicine of Strasbourg (FMTS), University of Strasbourg, Strasbourg, 67081, France.
Nima ParvanehDepartment of Pediatrics, Children's Medical Center, Division of Allergy and Clinical Immunology, Tehran University of Medical Sciences, Tehran, Iran. nparvaneh@tums.ac.ir.

Funding

TRANSPLANTEX NG ITI 2021-2028
6 · The paper itself

Abstract

backgroundComplete complement factor I (CFI) deficiency is an inborn error of immunity (IEI) that results in heightened susceptibility to infections and immune dysregulatory disorders. This systematic review seeks to enhance our understanding of the clinical characteristics, genotype-phenotype correlations, and treatment outcomes in patients with complete CFI deficiency, including three novel cases. We conducted a comprehensive literature review of cases published from 1996 to November 2024, identifying 49 patients with homozygous or compound heterozygous mutations in the CFI gene.

resultsAmong the 49 patients, the mean age at initial presentation was 7.19 (± SD: 9.75) years. Most patients presented with infectious manifestations (n: 37, 75.5%), particularly sepsis (n: 18, 36.7%). The predominant pathogens were encapsulated organisms, particularly Neisseria meningitidis. Immune dysregulatory manifestations involved rheumatologic (n: 14, 28.57%), neurologic (n: 11, 22.4%), and renal (n: 8, 16.3%) disorders. Immunological evaluations showed low or absent levels of C3 and CFI in most patients. Genetic analysis identified 45 distinct mutations; less deleterious mutations, such as missense and splicing variants, were more common in those with immune dysregulation. Notably, three patients treated with eculizumab demonstrated significant clinical improvement.

conclusionComplete CFI deficiency presents a varied clinical spectrum, from asymptomatic to recurrent infections and immune dysregulation. Early diagnosis and targeted therapies, such as eculizumab, may improve patient outcomes. These findings underscore the necessity for further research into the nature of complete CFI deficiency and the development of optimal management strategies.

Indexed as

Complement Factor IHereditary Complement Deficiency DiseasesAdolescentAntibodies, Monoclonal, HumanizedChildChild, PreschoolComplement C3FemaleGenetic Association StudiesHumansInfantMaleMutationAntibodies, Monoclonal, HumanizedCFI protein, humanComplement C3Complement Factor IeculizumabComplement Factor IComplete CFI deficiencyEculizumabImmune dysregulationInborn error of immunityRecurrent infections

Identifiers

PMID40713518
PMCPMC12297857

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.